Article
Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
American journal of medical genetics - 13 Feb 1995
Hodes M E, DeMyer W E, Pratt V M, Edwards M K, Dlouhy S R
Abstract excerpt
We studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C41-->T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the proposita currently are neurologically normal and sh...
Topics
- Brain
- Child, Preschool
- Diffuse Cerebral Sclerosis of Schilder
- Evoked Potentials, Auditory, Brain Stem
- Exons
- Female
- Genetic Carrier Screening
- Genetic Linkage
- Heterozygote
- Humans
- Magnetic Resonance Imaging
- Male
- Myelin Proteins
- Myelin Proteolipid Protein
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction